Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene
oleh: Bei Liu, Lang Chen, Jian Sun, Li Zhang, Min Chen, Yeqing Qian, Yanlin Wang, Kai Yan, Linxiao Hou, Yingzhi Huang, Dan Zhang, Yuming Xu, Jialing Yu, Jin Zhang, Minyue Dong
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-05-01 |
Deskripsi
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by mutations in the proteolipid protein 1 gene (PLP1) which is specifically expressed on the myelin sheath of oligodendrocytes. We established an induced pluripotent stem cell (iPSC) line (ZJUi005-A) from peripheral blood mononuclear cells of an 18-year-old male PMD patient with a novel hemizygous c.437T>C mutation in PLP1 gene using episomal reprogramming plasmids. The ZJUi005-A iPSC line carried the PLP1 mutation, expressed pluripotency markers, exhibited normal karyotype and showed differentiation potential in vitro.